Varaico: Literature-Extracted Genetic Variants

KAT6A

575 papers

RefSeq Summary

This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to...

Pfam Domains

SAMD1_WHaa 11–73UCSCSAM domain-containing protein 1, WH domain

PHDaa 209–262UCSCPHD-finger

PHDaa 265–310UCSCPHD-finger

zf-MYSTaa 506–560UCSCMYST family zinc finger domain

MOZ_SASaa 565–743UCSCMOZ/SAS family

Gene Aliases

HGNC Name

lysine acetyltransferase 6A

HGNC Previous Symbols

ZNF220; RUNXBP2; MYST3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006766.5

p.E1405V

c.4214A>T

Surrounding Variants

7 papers

NM_006766.5

p.E1405*

c.4213G>T

2 papers

NM_006766.5

p.L1406S

c.4217T>C

2 papers

NM_006766.5

p.I1407fs

c.4219_4220fs

1 paper

NM_006766.5

p.I1407insFs

c.4219dupA

2 papers

NM_006766.5

p.I1407delFs

c.4219delT

3 papers

NM_006766.5

p.E1408K

c.4222G>A

4 papers

NM_006766.5

p.E1408insFs

c.4224dupA

3 papers

NM_006766.5

p.L1409fs

c.4225_4226fs

1 paper

NM_006766.5

p.L1409*

c.4226T>G

4 papers

NM_006766.5

p.K1410fs

c.4228_4229fs

3 papers

NM_006766.5

p.K1410fs

c.4228_4229fs

1 paper

NM_006766.5

p.D1399Y

c.4195G>T